Variant position: 129 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 494 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human SLGILSGNDGGLLSGSEKET MQNLNDRLASYLDKVRALEEA
Mouse SLCIFSGNDGGLLSGSEKET MQNLNDRLASYLGKVRSLEEA
Rat SLCIFSGNDGGLLSGSEKET MQNLNDRLASYLGKVRALEEA
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene.
Corden L.D.; Swensson O.; Swensson B.; Smith F.J.D.; Rochels R.; Uitto J.; McLean W.H.I.;
Exp. Eye Res. 70:41-49(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS MECD1 THR-129 AND THR-135; VARIANT TRP-20;
Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.
Nichini O.; Manzi V.; Munier F.L.; Schorderet D.F.;
Ophthalmic Genet. 26:169-173(2005)
Cited for: VARIANTS MECD1 THR-129 AND SER-426;
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